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• scRNA-seq dataset of patient and healthy donors

  scRNA-seq dataset on a patient (P) presenting with defects of immunity and four healthy donors (C1, C2, C3, C4). This dataset contains raw and processed files from scRNA-seq performed on samples using the 10x Genomics Chromium Controller with the Chromium Single Cell 3′ Reagent Kit (v3 chemistry). There are 15 paired-end fastq files (3 per patient/donor - I1, R1, R2) and 15 processed files generated with 10x Genomics Cell Ranger v3.0.2 software against GRCh38 human reference transcriptome (3 per patient/donor - barcodes.tsv.gz, features.tsv.gz, matrix.mtx.gz).

  Dataset EGAD00001008372

• Normal pancreas cells cohort

  Mixed exocrine and purified ductal and de-differentiated acinar human cells obtained from normal pancreases. Ductal and de-differentiatedacinar cells where isolated by FACS after 4 days culture of the exocrine mixed population

  Dataset EGAD00010002007

• OSCC WES and genomes

  WES (N=18) and WGS (N=2) of OSCC tumors and normals with the aim of identifying novel mutational signatures in Asian tumors

  Dataset EGAD00001006077

• RAD21-ChIP-Seq of cohesin-mutated and wildtpye adult AMLs

  ChIP-Seq targeting the major cohesin core subunit RAD21 to represent cohesin occupancy and binding sites in cohesin-mutated (STA2 or RAD21 mutations) and wildtpye adult AMLs.

  Dataset EGAD00001011199

• ECL_onc_biology_DAC

  This DAC can be used by biology members of the oncology-related domain and function of ECL when depositing data. (DAA was reviewed by the legal department in March 2024.)

  Dac EGAC50000000275

• UCL Translation Uro-Oncology Data Access Committee will govern access to data generated from the Translation Uro-Oncology groups of the UCL Cancer Institute and UCL Division of Surgery & Interventional Science

  Dac EGAC00001000471

• NSCCG CRC WES

  1006 Familial early onset gemrline CRC patients sequenced by the Molecular and Population Genetics group of the Institute of Cancer Research

  Dataset EGAD00001002204

• Chromosomal instability shapes the tumor microenvironment of oesophageal adenocarcinoma via a cGAS–chemokine–myeloid axis

  This study employed whole-genome sequencing (WGS) to investigate genomic alterations in oesophagogastric adenocarcinoma, with a focus on mechanisms of chromosomal instability. Twelve tumour samples were analysed, including specimens obtained prior to neoadjuvant chemotherapy and at surgical resection. WGS was used to identify structural variants, quantify tumour mutational burden, and detect potential driver mutations across samples. The study aimed to correlate genomic measures of chromosomal instability with clinicopathological features to improve understanding of tumour biology.

  Study EGAS50000001561

• Target gene sequencing for human normal endometrial glands

  The raw fastq files target sequencing of 112 genes for 1,298 endometrial glands and matched blood samples. The paired-end sequencing data sets (R1 and R2) are deposited. ABCC1, ACRC, ANK3, ARHGAP35, ARID1A, ARID5B, ATCAY, ATM, ATR, BARD1, BCOR, BRCA1, BRCA2, BRD4, BRIP1, CAMTA1, CDC23, CDYL, CFAP54, CHD4, CHEK1, CHEK2, CTCF, CTNNB1, CUX1, DGKA, DISP2, DYNC2H1, EMSY, FAAP24, FAM135B, FAM175A, FAM65C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAT1, FAT3, FBN2, FBXW7, FGFR2, FRG1, GPR50, HEATR1, HIST1H4B, HNRNPCL1, HOOK3, KIAA1109, KIF26A, KMT2B, KMT2C, KRAS, LAMA2, LRP1B, MLH1, MON2, MRE11A, MSH2, MSH6, MTOR, NBN, PALB2, PHEX, PIK3CA, PIK3R1, PLXNB2, PLXND1, PMS2, POLE, POLR3B, PPP2R1A, PTEN, PTPN13, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54B, RAD54L, RICTOR, SACS, SIGLEC9, SLC19A1, SLX4, SPEG, STT3A, TAF1, TAF2, TAS2R31, TFAP2C, TNC, TONSL, TP53, TTC6, UBA7, VNN1, WT1, XIRP2, ZBED6, ZC3H13, ZFHX3, ZFHX4, ZMYM4.

  Dataset EGAD00001008465

• Multimodal antigenic escape to GPRC5D-targeted T-cell engagers in multiple myeloma

  We analyzed the genome of plasma cells collected from bone marrow samples or plasmocytoma from patients prior to (when available) and progression on anti-GPRC5D T cell engagers.

  Study EGAS50000001148

• Segmental_cherry_angioma_case

  Cherry angiomas are common benign blood vessel growths on the skin. In this study we characterise mutational profile of a cherry angioma and adjacent skin biopsied from a patient with multiple lesions with segmental presentation.

  Study EGAS00001008212

• Indigenous American Genomic Diversity Project (IAGDP).

  Here we present the Indigenous American Genomic Diversity Project (IAGDP), comprising 128 newly generated high-coverage (NGS; ~44X) whole genomes from Indigenous individuals across eight Latin American countries, representing 45 populations and 28 language families. This dataset expands Indigenous representation in genomics, with emphasis on geographically and linguistically diverse populations, particularly from the South American lowlands.

  Dataset EGAD50000002396

• Disease recurrence after pathologic response

  In this study we aim to gain insight into the mechanisms of immune evasion after initial pathologic response to neoadjuvant immune checkpoint inhibition in macroscopic stage III melanoma by pooling data of the neoadjuvant OpACIN, OpACIN-neo and PRADO trials. Therefore we analyzed in-depth paired baseline and recurrent tumor samples through a.o. DNA sequencing analyses.

  Dataset EGAD50000000699

• Whole-exome sequencing of rare autoimmune-related phenotypes

  We aim to whole-exome sequence DNA samples from 75 individuals with severe forms of Inflammatory Bowel Disease and related autoimmune diseases to identify the rare, highly penetrant, variants that we believe underlie these phenotypes. Case samples will be obtained from both new and existing (UK IBD Genetics Consortium) collaborators to ensure only the most extreme cases are sequenced.

  Dataset EGAD00001000408

• Human tumor single-cell

  We profiled 11 patient tumor samples by single-cell and single-nuclei RNA-seq using 10X Chromium 3'. These include samples from the following entities: WNT-subtype medulloblastoma (N=3), embryonal tumors with multilayered rosettes (N=3), and atypical teratoid-rhabdoid tumors (N=5). The BAM files are provided.

  Dataset EGAD00001005129

• Exome sequencing of 277 rainforest hunter-gatherers and neighbouring farmers from Central Africa

  Exome sequencing of 277 rainforest hunter-gatherers (RHG) and neighbouring farmers (AGR) from Central Africa was performed based on the Nextera Rapid Capture Expanded Exome Kit (62-Mb content) with the Illumina HiSeq 2500. After QC filters, exomes of 266 unrelated individuals were obtained at high coverage (Lopez et al., Curr Biol 2019).

  Dataset EGAD00001005138

• LBC1936 VCF

  LBC1921 and LBC1936 GVCFs called with GATK's HaplotypeCaller were combined and subject to variant quality score recalibration. This VCF contains the subset of samples (n = 1068) from the LBC1936 cohort.

  Dataset EGAD00001005478

• Natural Killer Cell Plasticity During IL-15-driven Homeostatic Proliferation

  Here we performed single-cell RNA sequencing to address repertoire stability and subset plasticity during IL-15 driven homeostatic proliferation. Sorted NK cell subsets representing discrete stages of NK cell differentiation are compared with the corresponding subsets after proliferation and further sorted into two subsets depending on the rate of proliferation.

  Dataset EGAD00001005420

• Post Mortem brain data used in paper "Significant and pervasive effects of RNA degradation on Nanopore direct RNA sequencing"

  This dataset contains data used in the paper titled "Significant and pervasive effects of RNA degradation on Nanopore direct RNA sequencing. The data consists of one post mortem sample that was sequenced with direct RNA sequencing form Oxford Nanopore Technologies on a promethION flow cell.

  Dataset EGAD00001009308

• RNAseq data from NEN patient derived tumor organoids (PDTOs) and matched parental tumors - MUMC

  The dataset includes fastq files from 4 NEN tumors or metastases and matched PDTOs. The sequencing was done with either a Nextseq 2000 or a NovaSeq 6000 instrument.

  Dataset EGAD00001009991

• Ovarian Carcinosarcoma DNA and RNA sequencing of patient samples in the UK cohort.

  Ovarian Carcinosarcoma DNA and RNA sequencing of patient samples in the UK cohort (n=18).

  Dataset EGAD00001011068

• Epigenetic Moderators of Naltrexone Efficacy for Alcohol Use Disorder

  This study was a 16-week randomized controlled trial of oral naltrexone (50 mg daily) vs. placebo among adults with Alcohol Use Disorder. DNA was extracted from peripheral mononuclear cells isolated from a blood sample collected at baseline, prior to study medication ingestion. The Illumina MethylationEPIC BeadChip was subsequently used to analyze these extracted DNA samples.

  Study phs002424

• CCMA-WGSraw

  This dataset has the mapped bam files from WGS for the cancer models in CCMA.

  Dataset EGAD00001010035

• The British Autozygosity Populations BioResource

  This data set contains whole exome sequences of individuals with self-stated parental relatedness from the East London Genes & Health cohort. Rare frequency functional variants in these healthy individuals will be studied with respect to the genetic health of the participants and loss-of-function analysis of human genes.

  Dataset EGAD00001003215

• smRNA-seq of human post-mortem brain data of frontal lobe (Tuebingen part)

  This dataset contains smRNA-seq data from post-mortem human brain tissue of the frontal lobe of patients with FTD and healthy controls. The smRNA-sequencing was done in two parts, this dataset depicts the data generated at the DZNE Tübingen.

  Dataset EGAD00001006846